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Adult-onset nemaline myopathy

MedGen UID:
154264
•Concept ID:
C0546123
•
Disease or Syndrome
Synonyms: Adult Onset Nemaline Myopathy; Nemaline Myopathy, Adult Onset
SNOMED CT: Nemaline myopathy, late onset type (129622008); Adult-onset nemaline myopathy (129622008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0015739
Orphanet: ORPHA171442

Definition

A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdult-onset nemaline myopathy
Follow this link to review classifications for Adult-onset nemaline myopathy in Orphanet.

Professional guidelines

PubMed

Comments on: Chemotherapy-based approach is the preferred treatment for sporadic late-onset nemaline myopathy with a monoclonal protein.
Naddaf E, Kourelis T
Int J Cancer 2021 Aug 1;149(3):741-742. Epub 2021 Mar 24 doi: 10.1002/ijc.33572. PMID: 33742684
Clinical utility gene card for: Nemaline myopathy - update 2015.
Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG
Eur J Hum Genet 2015 Nov;23(11) Epub 2015 Feb 25 doi: 10.1038/ejhg.2015.12. PMID: 25712079Free PMC Article
Clinical utility gene card for: nemaline myopathy.
Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG
Eur J Hum Genet 2012 Jun;20(6) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.70. PMID: 22510848Free PMC Article

Recent clinical studies

Etiology

Adult-onset nemaline myopathy presenting as respiratory failure.
Kelly E, Farrell MA, McElvaney NG
Respir Care 2008 Nov;53(11):1490-4. PMID: 18957152

Diagnosis

Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report.
Cao L, Wang Y, Liu X, Hu Y, Li N, Qiu G, Luo Y, Li W
Medicine (Baltimore) 2016 Jan;95(4):e2527. doi: 10.1097/MD.0000000000002527. PMID: 26825889Free PMC Article
Diagnosis of muscle diseases presenting with early respiratory failure.
Pfeffer G, Povitz M, Gibson GJ, Chinnery PF
J Neurol 2015 May;262(5):1101-14. Epub 2014 Nov 7 doi: 10.1007/s00415-014-7526-1. PMID: 25377282
Adult-onset nemaline myopathy presenting as respiratory failure.
Kelly E, Farrell MA, McElvaney NG
Respir Care 2008 Nov;53(11):1490-4. PMID: 18957152
Isolated dropped head due to adult-onset nemaline myopathy treated by posterior fusion.
Katirji B, Hachwi R, Al-Shekhlee A, Cohen ML, Bohlman HH
Neurology 2005 Nov 8;65(9):1504-5. doi: 10.1212/01.wnl.0000183283.97098.d8. PMID: 16275851
Adult-onset nemaline myopathy: a case report and review of the literature.
Gyure KA, Prayson RA, Estes ML
Arch Pathol Lab Med 1997 Nov;121(11):1210-3. PMID: 9372751

Therapy

Adult nemaline myopathy with trabecular muscle fibers.
Irodenko VS, Lee HS, de Armond SJ, Layzer RB
Muscle Nerve 2009 Jun;39(6):871-5. doi: 10.1002/mus.21190. PMID: 19229965
Adult-onset nemaline myopathy and monoclonal gammopathy: a case report.
Deconinck N, Laterre EC, Van den Bergh PY
Acta Neurol Belg 2000 Mar;100(1):34-40. PMID: 10779860

Prognosis

Adult-onset nemaline myopathy presenting as respiratory failure.
Kelly E, Farrell MA, McElvaney NG
Respir Care 2008 Nov;53(11):1490-4. PMID: 18957152
Nemaline myopathy: a clinical study of 143 cases.
Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN
Ann Neurol 2001 Sep;50(3):312-20. doi: 10.1002/ana.1080. PMID: 11558787

Supplemental Content

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